Porphyria is a group of 8 different disorders that affect the skin and the nervous system. These conditions are usually inherited. Either one or both parents pass a mutated gene to their child. It is very rare, and for some individuals they may show no signs of the disease ever. Usually porphyria is an inherited condition, but in some cases it can be an acquired disease.
Porphyria is caused by your body having low levels of specific enzymes that are needed to make heme. Heme is part of the hemoglobin in your blood, it is a protein that lives in your liver, and it is an iron-containing pigment that is vital for your body’s organs to function. These low levels of the enzymes cause a buildup of porphyrin and porphyrin precursors. Porphyrin and porphyrin precursors can build up in your liver, skin, and other body tissues. There is no cure for porphyria, but there are treatments to help manage symptoms.
Types
There are 8 specific types of porphyria. They are delta-aminolevulinate-dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, porphyria cutanea tarda, hepatoerythropoietic porphyria, and erythropoietic protoporphyria. Porphyria can also be classified by the part of the body that becomes overactive. With erythropoietic porphyrias your bone marrow produces porphyrins in high levels. With hepatic porphyrias the liver makes too many porphyrins and porphyrin precursors. You can also have acute porphyrias which usually have a rapid onset. The symptoms last a short amount of time but come back off and on. Usually acute porphyrias affect the nervous system. Cutaneous porphyrias only affect the skin.
Symptoms
Symptoms can come and go with porphyria. There are triggers that can cause symptoms to flare up. Some of the main triggers are drinking alcohol, estrogen use in women, hepatitis C, HIV, or smoking. In acute porphyria symptoms can be brought on by different medications such as barbiturates, sulfa antibiotics, birth control pills, and seizure medications. Other triggers of acute porphyria are fasting, smoking, drinking alcohol, infections, menstrual hormones, stress, and being in the sun.
Symptoms can vary based on type of porphyria. Acute porphyria symptoms are belly pain, chest pain, high heart rate, high blood pressure, limb or back pain, muscle weakness, tingling, loss of sensation, cramping, vomiting, constipation, depression, agitation, confusion, or seizures. Long term complications can include long term pain, kidney damage, or liver cancer.
Cutaneous porphyria symptoms usually include skin symptoms due to exposure of sunlight. Common areas affected are the hands, forearms, ears, and neck. Symptoms on exposed skin can include blisters, itching, swelling, pain, more hair growth, darkening of skin, or thickening of the skin.
Diagnosis
Diagnosing can be tricky because symptoms aren’t always present to help diagnose. Diagnosing tests can include a blood, urine, and stool sample. Usually the best time to get diagnosed is when your symptoms are present. Genetic testing is the easiest way to check for porphyria since it is usually an inherited disease.
Treatment
Treatment depends on the type of porphyria you have. One of the main forms of treatment is to avoid sunlight, and to avoid other triggers. Some people may find that having a therapeutic phlebotomy can help with symptoms. This type of blood draw can help reduce the amount of iron in your liver. Acute porphyria may cause you to be hospitalized when your symptoms become present. You may be in need of intravenous hemes to be given to you. You may also need glucose infusions. Other treatments that can help are blood transfusions, spleen or liver removal, or bone marrow transplant. Dietary changes can also be beneficial. Eating a diet that is high in carbohydrates and high in calories.
Usually people find ways to manage their symptoms. Since this is a genetic disorder you may have symptoms throughout your entire life. There is no cure. Avoiding triggers and working with your doctor you will be able to come up with a treatment plan that is tailored to your individual needs.
Sources:
https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066
https://my.clevelandclinic.org/health/diseases/17760-porphyria
https://www.webmd.com/a-to-z-guides/porphyria-symptoms-causes-treatment
https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072